Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Regen Med. 2011 Jul;6(4):493-503. doi: 10.2217/rme.11.27.
Chromosomal aneuploidies are widely recognized genetic disorders in humans that often lead to spontaneous abortion. Aneuploid fetuses that survive to term commonly exhibit impaired developmental growth and mental retardation in addition to multiple congenital malformations. Preimplantation genetic screening is used to detect chromosomal aneuploidies in early embryos. Human embryonic stem cell (ESC) cell lines generated from aneuploid embryos created a unique repository of cell lines. The spectrum of aneuploidies in these ESC lines reflects the range of common embryonic chromosomal aberrations and significantly differs from the spectrum of aneuploid human ESC lines generated by cell adaptation in culture. The aneuploid human ESC lines represent an excellent model to study human chromosomal abnormalities especially in the early stages of development.
染色体非整倍体是人类中广泛公认的遗传疾病，常导致自发性流产。存活至足月的非整倍体胎儿除了多种先天性畸形外，还常表现出发育生长受损和智力迟钝。胚胎植入前遗传学筛查用于检测早期胚胎中的染色体非整倍体。从非整倍体胚胎中生成的人类胚胎干细胞（ESC）细胞系为细胞系提供了独特的存储库。这些 ESC 系中的非整倍体谱反映了常见胚胎染色体异常的范围，与通过培养中的细胞适应生成的非整倍体人类 ESC 系的谱明显不同。非整倍体人类 ESC 系是研究人类染色体异常的极好模型，特别是在发育的早期阶段。
